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Article

Novel Myelin Protein Zero Mutation in 3 Generations of Vermonters With Demyelinating Charcot-Marie-Tooth Disease.

Journal of clinical neuromuscular disease - 1 Mar 2018

Lorance David K, Mandigo Kelly A, Hehir Michael K

Abstract excerpt

OBJECTIVES: We report the clinical phenotype in 3 consecutive generations with demyelinating Charcot-Marie-Tooth disease that possess a novel sequence variant of myelin protein zero (MPZ). METHODS: Family members from 3 consecutive generations were interviewed, examined, and studied with electrodiagnostic testing. Commercially available next-generation sequencing was performed for the proband. Single-gene...

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Identifiers

PMID: 29465609
DOI: 10.1097/CND.0000000000000188

Genes

MPZ

Variants

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